A5090422201- Testicular diseases and treatments
- Renal and related cancers
- Hippo pathway signaling and YAP/TAZ
- Sarcoma Diagnosis and Treatment
- Sexual Differentiation and Disorders
- Cutaneous Melanoma Detection and Management
- Urological Disorders and Treatments
- Tumors and Oncological Cases
- Urologic and reproductive health conditions
- Neuroblastoma Research and Treatments
- Congenital Anomalies and Fetal Surgery
- Genetic and rare skin diseases.
- Child and Adolescent Health
- Congenital Diaphragmatic Hernia Studies
- Sperm and Testicular Function
- melanin and skin pigmentation
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomics and Rare Diseases
- Vascular Malformations and Hemangiomas
- Glioma Diagnosis and Treatment
- Genital Health and Disease
- Congenital heart defects research
- Renal cell carcinoma treatment
- Oral and Maxillofacial Pathology
- Salivary Gland Tumors Diagnosis and Treatment
Children's Hospital of Pittsburgh
2016-2025
Jackson Memorial Hospital
2024-2025
University of Miami
2024-2025
University of Pittsburgh Medical Center
2011-2024
University of Pittsburgh
2014-2024
Pittsburg State University
2022
UPMC Health System
2021
Memorial Sloan Kettering Cancer Center
2015-2021
Lincoln Medical Center
2021
Hospital of the University of Pennsylvania
2020
Phosphate homeostasis is central to diverse physiologic processes including energy homeostasis, formation of lipid bilayers, and bone formation. Reduced phosphate levels due excessive renal loss cause hypophosphatemic rickets, a disease characterized by prominent defects; conversely, hyperphosphatemia, major complication failure, accompanied parathyroid hyperplasia, hyperparathyroidism, osteodystrophy. Here, we define syndrome featuring both rickets hyperparathyroidism hyperplasia as well...
Fatty acid oxidation (FAO) disorders are frequently reported as the cause of sudden and unexpected death, but their postmortem recognition remains difficult. We have devised a biochemical protocol in which informative findings liver tissue microvesicular steatosis, elevated concentrations C8-C16 fatty acids, glucose depletion, low carnitine concentration.We analyzed 27 cases representing five FAO compared results with those obtained retrospective blinded analysis 418 infant death (313 SIDS,...
Fatty liver is increasingly common in obese adolescents. We determined its association with glucose dysregulation 118 (37M/81F) adolescents of similar age and percent total fat. Fast-magnetic resonance imaging (MRI) simple MRI were used to quantify hepatic fat content abdominal distribution. All subjects had a standard oral tolerance test. Insulin sensitivity was estimated by the Matsuda Index homeostasis model assessment insulin resistance. Baseline high molecular weight (HMW)-adiponectin...
The motive forces for ciliary movement are generated by large multiprotein complexes referred to as outer dynein arms (ODAs), which preassembled in the cytoplasm prior transport axonemal compartment. In humans, defects structural components, docking complexes, or cytoplasmic assembly factors can cause primary dyskinesia (PCD), a disorder characterized chronic airway disease and laterality. By using combined high resolution copy-number variant mutation analysis, we identified ARMC4 mutations...
Nonadherence to immunosuppressant medications is a leading cause of poor long-term outcomes in transplant recipients. The Medication Level Variability Index (MLVI) provides vehicle for outcome risk-stratification through continuous assessment adherence. MALT (Medication Adherence children who had Liver Transplant) prospective multi-site study evaluated whether MLVI predicts late acute rejection (LAR). Four hundred pediatric (1-17-year-old) liver recipients were enrolled and followed 2 years....
Control of cytokinesis by β-adrenergic receptors indicates an approach for regulating the established number cardiomyocytes.
Six cases are reported of an osteoclast-rich tumor the gastrointestinal tract that should be segregated from GIST. Five were located in small bowel and one stomach. The age patients ranged 13 to 37 years. tumors behaved aggressively, with metastases regional lymph nodes, liver, other intraabdominal sites. Microscopically, cells medium-sized, predominantly oval, relatively monomorphic, diffusely immunoreactive for S-100-protein, negative CD1 17, CD34, HMB-45, Mart-i. They admixed scattered...
Total parenteral nutrition (TPN)-induced liver injury is a common complication in neonates managed with newborn intensive care. In several of these cases, irreversible and even fatal damage may develop, patients dying failure. spite multiple studies over years, the pathogenesis TPN-induced remains poorly understood. Clinical data from 24 clinical history receiving TPN who died at Yale—New Haven Children's Hospital had autopsies performed, were collected by medical record review without...
The histologic criteria used to diagnose ulcerative colitis in colonic mucosal biopsies have been established for many years and include crypt architectural distortion, plasmacellular infiltrates, neutrophils the epithelium lumen. In several recent studies, it has noted that from children presenting with show fewer abnormalities at initial presentation, especially less than do adults. this study, taken time of presentation 15 adults 25 were examined blindly by two pathologists. All prior...
NRAS and BRAF mutations occur in congenital melanocytic nevi (CMN), but results are contradictory. Sixty-six prospectively collected CMN patients were analyzed for Q61 using Sanger sequencing. Negative cases evaluated V600E mutation. affected 51 (77.3%), was found 5 (7.6%). mutation 29 (80.6%) of 36 giant, 16 (80.0%) 20 large, (62.5%) 8 medium-size CMN; 1 (5%) large 4 (11.4%) giant CMN. Compared to NRAS, BRAF-mutated show scattered/extensive dermal subcutaneous nodules (100% BRAF+ vs 34.8%...
SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but role humans unknown. Here, we show that expressed somatic cells early developing gonad human influences sex determination. We identified two individuals with 46, XY disorders/differences development (DSD) chromosomal rearrangements encompassing locus a third individual DSD missense mutation SOX8. In vitro functional assays indicate this...
Embryonic signaling pathways, in particular those mediated by Wnt and TGF-β, are known to play key roles tumor progression through the induction of epithelial-mesenchymal transition (EMT). Their simultaneous targeting could therefore represent a desirable anticancer strategy. On basis recent findings that both TGF-β-associated pathways regulated Hippo mammalian cells, we reasoned latter would be more effective inhibiting EMT. In search for such inhibitors, identified small molecule (C19)...
Biliary atresia (BA) is poorly understood and leads to liver transplantation (LT), with the requirement for associated risks of lifelong immunosuppression, in most children. We performed a genome-wide association study (GWAS) determine genetic basis BA.
<h2>Abstract</h2> A girl 5 years 11 months of age, belonging to an extensive kindred with multiple endocrine neoplasia, type IIA (MEN IIA), was found have multifocal medullary thyroid carcinoma metastasis in one paraglandular lymph node after positive findings on a calcium-pentagastrin stimulation test. Her sister, 3 8 also had elevated calcitonin level, and thyroidectomy revealed C-cell hyperplasia focus carcinoma. These two cases underscore the need for prophylactic thyroidectomies MEN...
Cellular hemangiomas of infancy, also known as "infantile hemangioendotheliomas," are benign tumors whose dense cellularity may lead to confusion with soft tissue sarcomas. Ultrastructural and immunohistologic study revealed considerable cellular heterogeneity in these lesions despite the monomorphous appearance by routine histologic preparations. Pericytes endothelial cells predominant, but fibroblasts mast regularly present tumors. An interstitially located cell uncertain identification,...
Familial hyperparathyroid syndromes involving mutations of HRPT2 (also CDC73), a tumor suppressor, are important to identify because the relatively high incidence parathyroid malignancy associated with such warrants specific surveillance strategy. However, there is dearth reports describing experience and early detection informed by genetic insight into this disorder.Familial isolated hyperparathyroidism (FIHP) rare cause (PT) tumors without other neoplasms or endocrinopathies. Germline in...
Background. Melanocytic proliferations affecting the central nervous system (CNS) of children may be classified as meningeal melanocytosis, primary melanoma, or metastatic melanoma. Meningeal melanocytosis often is associated with giant congenital pigmented nevi (preferentially involving midline, head and neck) representing lethal condition neurocutaneous melanocytosis. Primary melanomas, although extremely rare in children, can occur brain its coverings are a poor prognosis. Methods. A...
Abstract Using a mouse model of neonatal respiratory distress syndrome (RDS), we demonstrate central role for macrophage migration inhibitory factor (MIF) in lung maturation at the developmental stage when human neonates are most susceptible to RDS. We prematurely delivered pups embryonic day 18, during early saccular pulmonary development. Only 8% genetically deficient MIF survived 8 h vs 75% wild-type controls (p &lt; 0.001). This phenotype was corrected all genotypes were bred from...
Abstract BACKGROUND: Although the literature reports a low incidence of Burkitt lymphoma (BL) as post‐transplant lymphoproliferative disorder (PTLD), this entity appears to be different from other monomorphic PTLDs (M‐PTLDs), both in its aggressive clinical presentation and distinct pathologic profile. METHODS: Patients with BL, diagnosed setting, (patients aged ≤18 years) were retrieved pathology archives at Children's Hospital Pittsburgh University Medical Center 1982 2010. Clinical...
Loss of function mutations in the actin motor myosin Vb (Myo5b) lead to microvillus inclusion disease (MVID) and death newborns children. MVID results secretory diarrhea, brush border (BB) defects, villus atrophy, inclusions (MVIs) enterocytes. How loss Myo5b increased stool chloride (Cl − ) sodium (Na + is unknown. The present study used loss-of-function human intestine, polarized intestinal cell models crypt (T84) resembling (CaCo2BBe, C2BBe) enterocytes lacking conjunction with...